Evidence map›Paper›PMID 41968367›Full record

ArticleBMC research notes2026

Rapid prenatal CNV detection using nanopore technology.

Maolee Bhuwapathanapun, Piya Chaemsaithong, Puntabut Warintaksa, Budsaba Rerkamnuaychoke, Rachanee Parinayok, Takol Chareonsirisuthigul, Suwatcharaporn Hadradchai, Maneerat Prakobpanich, Weerin Thammachote, Natini Jinawath and 6 more

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Article in BMC research notes, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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1 · What the graph read from it

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2 · The registry

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3 · Its place in the literature

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4 · The record

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5 · Who and what money

Authors and funding

16 authors.

Maolee BhuwapathanapunDivision of Maternal-Fetal Medicine, Department of Obstetrics and Gynecology, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand.
Piya ChaemsaithongDivision of Maternal-Fetal Medicine, Department of Obstetrics and Gynecology, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand.
Puntabut WarintaksaDivision of Maternal-Fetal Medicine, Department of Obstetrics and Gynecology, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand.
Budsaba RerkamnuaychokeDepartment of Pathology, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand.
Rachanee ParinayokDepartment of Pathology, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand.
Takol ChareonsirisuthigulDepartment of Pathology, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand.
Suwatcharaporn HadradchaiDivision of Maternal-Fetal Medicine, Department of Obstetrics and Gynecology, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand.
Maneerat PrakobpanichDivision of Maternal-Fetal Medicine, Department of Obstetrics and Gynecology, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand.
Weerin ThammachoteProgram in Translational Medicine, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand.
Natini JinawathProgram in Translational Medicine, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand.
Tantip ArigulOxford Nanopore Centre of Excellence, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand.
Pattaraporn NimsamerOxford Nanopore Centre of Excellence, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand.
Sopacha ArayamethakornOxford Nanopore Centre of Excellence, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand.
Sorawee KaewkarnOxford Nanopore Centre of Excellence, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand.
Piroon JenjaroenpunOxford Nanopore Centre of Excellence, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand.
Thidathip WongsurawatOxford Nanopore Centre of Excellence, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand. thidathip.won@mahidol.edu.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Rapid identification of copy-number variations (CNVs) is crucial in prenatal diagnosis; however, current chromosomal microarray analysis (CMA) has a lengthy turnaround time. We evaluated the feasibility of low-pass nanopore sequencing for genome-wide CNV detection using amniotic fluid and umbilical cord blood from 22 samples. Combining the enzymatic reaction step with nanopore sequencing or the nCNV-seq technique achieved complete concordance with CMA across all abnormal and normal cases, accurately detecting CNVs as small as 0.7 Mb. The workflow generated > 1 million reads per sample, providing sufficient coverage (< 1×) for reliable CNV profiling. These findings demonstrate that nanopore sequencing can serve as an alternative to CMA for rapid testing, potentially lower investment costs, and faster turnaround times.

Indexed as

DNA Copy Number VariationsNanoporesNanopore SequencingPrenatal DiagnosisAmniotic FluidFemaleFetal BloodHumansPregnancyAmniotic fluidAneuploidyAnomalyBioinformaticsCNVCopy number variationsCord bloodLong read sequencingNanoporePrenatal diagnosis

Identifiers

PMID41968367
PMCPMC13188751

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.